Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02451:Slc27a2'

293649

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc27a2

Ensembl Gene

ENSMUSG00000027359

Gene Name

solute carrier family 27 (fatty acid transporter), member 2

Synonyms

VLCS, ACSVL1, Vlac, FATP2, FATP2, Vlacs

Accession Numbers

Genbank: NM_011978.2 ; Ensembl: ENSMUST00000061491, ENSMUST00000141482, ENSMUST00000126249, ENSMUST00000150947

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02451

Quality Score

Status

Chromosome

Chromosomal Location

126552407-126588243 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126578992 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 468 (M468V)

Ref Sequence

ENSEMBL: ENSMUSP00000057595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061491] [ENSMUST00000141482]

Predicted Effect

probably benign
Transcript: ENSMUST00000061491
AA Change: M468V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000057595
Gene: ENSMUSG00000027359
AA Change: M468V

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
low complexity region	41	53	N/A	INTRINSIC
Pfam:AMP-binding	59	488	1.4e-71	PFAM
Pfam:AMP-binding_C	496	572	1.9e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141482
AA Change: M332V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117145
Gene: ENSMUSG00000027359
AA Change: M332V

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	7	256	6.2e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150947

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an isozyme of long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme activates long-chain, branched-chain and very-long-chain fatty acids containing 22 or more carbons to their CoA derivatives. It is expressed primarily in liver and kidney, and is present in both endoplasmic reticulum and peroxisomes, but not in mitochondria. Its decreased peroxisomal enzyme activity is in part responsible for the biochemical pathology in X-linked adrenoleukodystrophy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous mutant mice are viable and show no gross morphological abnormalities. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted, knock-out(2) Targeted, other(2) Gene trapped(1)

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	G	5: 138,563,547	T126P	probably damaging	Het
Asic2	T	C	11: 80,891,737		probably benign	Het
B430305J03Rik	A	G	3: 61,364,141		probably benign	Het
Bbs7	A	G	3: 36,610,592	F47L	possibly damaging	Het
BC017158	A	G	7: 128,276,410	L257P	probably damaging	Het
Bcl2l14	G	T	6: 134,423,841	G75V	probably benign	Het
Btnl4	T	C	17: 34,475,927	H4R	probably benign	Het
Champ1	C	A	8: 13,878,739	P299Q	probably damaging	Het
Cldnd2	A	G	7: 43,441,658	K5E	probably benign	Het
Ctr9	T	A	7: 111,043,424	L401*	probably null	Het
Cyp2c29	G	A	19: 39,290,847	G96D	possibly damaging	Het
Enpp4	A	T	17: 44,101,424	L298H	probably damaging	Het
Git1	T	C	11: 77,500,687	C222R	possibly damaging	Het
Gpam	T	C	19: 55,088,203	T189A	probably damaging	Het
Hgfac	T	G	5: 35,043,814		probably null	Het
Hivep3	T	A	4: 120,133,965	S2221T	probably damaging	Het
Ifi47	T	C	11: 49,095,777	Y124H	probably damaging	Het
Il1a	T	C	2: 129,306,655	E45G	probably damaging	Het
Itga11	T	A	9: 62,735,353	I186N	probably damaging	Het
Krt16	A	T	11: 100,246,336		probably benign	Het
Mapk13	A	G	17: 28,776,413	T203A	probably damaging	Het
Mrpl37	T	A	4: 107,066,642	I52F	probably damaging	Het
Nr1i2	A	G	16: 38,249,292	F417L	probably benign	Het
Olfr1129	T	A	2: 87,575,232	S49R	probably benign	Het
Olfr811	G	A	10: 129,801,833	Q231*	probably null	Het
Osbpl1a	T	C	18: 12,914,493		probably benign	Het
Parg	C	T	14: 32,242,229	T112M	probably damaging	Het
Pifo	T	A	3: 106,014,504	E34D	probably benign	Het
Pou6f1	T	C	15: 100,579,940	T166A	possibly damaging	Het
Prtg	A	G	9: 72,856,999	I585V	possibly damaging	Het
Ptpru	T	G	4: 131,776,775		probably benign	Het
Rab6a	T	C	7: 100,636,763		probably null	Het
Rnf207	C	T	4: 152,312,412	R425H	probably benign	Het
Skiv2l2	C	T	13: 112,891,347	V660M	probably damaging	Het
Slc30a1	A	G	1: 191,907,329	H108R	possibly damaging	Het
Sned1	A	G	1: 93,236,208		probably benign	Het
Sptbn4	A	T	7: 27,365,589	F2095Y	probably null	Het
Sspo	A	T	6: 48,460,303		probably benign	Het
Tbx19	A	G	1: 165,140,171	S336P	probably benign	Het
Tmem101	T	A	11: 102,153,293	D256V	probably damaging	Het
Trbv20	T	G	6: 41,188,276	L2V	unknown	Het
Trpc7	A	G	13: 56,822,461	S382P	probably damaging	Het
Uhmk1	T	C	1: 170,212,526	T91A	possibly damaging	Het
Vmn2r10	T	A	5: 108,995,922	R721*	probably null	Het
Vmn2r94	T	A	17: 18,258,191	Y98F	possibly damaging	Het
Zcchc11	C	A	4: 108,529,276	Y1114*	probably null	Het
Zfp532	A	G	18: 65,623,601	R202G	probably damaging	Het
Zfp827	T	C	8: 79,060,972	S256P	probably damaging	Het
Zzef1	T	C	11: 72,901,388	I2266T	probably damaging	Het

Other mutations in Slc27a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Slc27a2	APN	2	126580917	missense	probably damaging	1.00
IGL01907:Slc27a2	APN	2	126587874	missense	probably benign	0.02
IGL02185:Slc27a2	APN	2	126567816	missense	probably damaging	0.99
IGL02363:Slc27a2	APN	2	126578950	missense	possibly damaging	0.58
IGL02486:Slc27a2	APN	2	126553350	missense	probably benign	0.00
IGL03217:Slc27a2	APN	2	126586252	missense	possibly damaging	0.80
IGL03287:Slc27a2	APN	2	126553392	missense	probably damaging	1.00
IGL03291:Slc27a2	APN	2	126564750	missense	probably benign	0.14
baseboard	UTSW	2	126567780	missense	probably damaging	0.97
B6584:Slc27a2	UTSW	2	126561642	missense	possibly damaging	0.94
R0021:Slc27a2	UTSW	2	126567886	splice site	probably benign
R0647:Slc27a2	UTSW	2	126587916	missense	probably benign	0.00
R1326:Slc27a2	UTSW	2	126564770	missense	probably damaging	1.00
R1509:Slc27a2	UTSW	2	126553314	missense	possibly damaging	0.95
R1907:Slc27a2	UTSW	2	126586342	missense	probably benign	0.13
R2012:Slc27a2	UTSW	2	126553615	missense	probably damaging	0.98
R2217:Slc27a2	UTSW	2	126567752	missense	probably damaging	0.99
R3769:Slc27a2	UTSW	2	126567798	missense	possibly damaging	0.90
R3770:Slc27a2	UTSW	2	126567798	missense	possibly damaging	0.90
R5244:Slc27a2	UTSW	2	126578855	missense	probably benign	0.00
R5459:Slc27a2	UTSW	2	126580992	missense	probably damaging	0.98
R5582:Slc27a2	UTSW	2	126564690	missense	probably damaging	1.00
R5606:Slc27a2	UTSW	2	126564690	missense	probably damaging	1.00
R5655:Slc27a2	UTSW	2	126578939	missense	probably damaging	1.00
R5680:Slc27a2	UTSW	2	126561610	missense	probably benign	0.02
R5747:Slc27a2	UTSW	2	126564738	missense	probably benign
R6346:Slc27a2	UTSW	2	126587880	missense	probably damaging	0.97
R7042:Slc27a2	UTSW	2	126567780	missense	probably damaging	0.97
R7297:Slc27a2	UTSW	2	126578946	missense	probably damaging	0.99
R7323:Slc27a2	UTSW	2	126553204	missense	probably benign	0.38
R7391:Slc27a2	UTSW	2	126553162	missense	unknown
R8247:Slc27a2	UTSW	2	126553595	missense	probably benign	0.01
RF008:Slc27a2	UTSW	2	126553255	missense	possibly damaging	0.95

Posted On

2015-04-16